A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15748448



Internal ID5750264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77384338..77388624hg38UCSC Ensembl
Innerchr17:77384399..77388563hg38UCSC Ensembl
Outerchr17:77384277..77388685hg38UCSC Ensembl
chr17:75380420..75384706hg19UCSC Ensembl
Innerchr17:75380481..75384645hg19UCSC Ensembl
Outerchr17:75380359..75384767hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg384287
hg194287
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641313
Supporting Variants
SamplesHG02682
Known GenesSEPT9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15748448
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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